Results 211 to 220 of about 225,004 (293)

Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening [PDF]

Vanessa Luiza Romanelli Tavares, Rodrigo Holanda Mendonça, Maytê S. Toledo, Sônia Marchezi Hadachi, Carmela M. Grindler, Edmar Zanoteli, Wilson Marques, Acary Souza Bullé Oliveira, Paulo Breinis, Maria da Penha Ananias Morita, Marcondes C. França   +10 more
openalex   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Learning Collaborative to Support Continuous Quality Improvement in Newborn Screening. [PDF]

Int J Neonatal Screen
Jones E, Singh S, McKasson S, Sheller R, Ojodu J, Comer A.   +5 more
europepmc   +1 more source

A Combined Newborn Screening Approach for Hearing and Vision in Sub-Saharan Africa: First Pilot Study in Cameroon

Gaelle Vofo, Brice Nguedia Vofo, Winnie Anoumedem, Holgar Fung, Demosthene Afofou, Christabel Abanda, Serge Fankeng, Winnie Mbwentchou, Eugenie Mempouo, Sara Kingue, Francine Mveng, Evelyne Nguedia, Caren Mason, Evariste Nguimkeu, Frenkel Shahar, Sagit Stern Shavit, Michal Kaufmann, Jules Clément Nguedia Assob, Christian Andjock, Menachem Gross, Richard Njock   +20 more
openalex   +1 more source

The Pivotal Role of GR‐CAR Pathway in Fetal Programming of Hepatic Cytochrome P450 3A Alteration in Adulthood

Advanced Science, EarlyView.
Prenatal dexamethasone exposure (PDE) persistently upregulates hepatic CYP3A1/CYP2B1 in offspring via glucocorticoid receptor (GR) activation. In vivo and in vitro studies show GR promotes P300/CBP binding to the constitutive androstane receptor (CAR) promoter, sustaining histone acetylation (H3K9/K27ac) and enhancing CYP expression. The GR–CAR pathway
Xiaoxiang Sun, Jie Liu, E Xiang, Xia Li, Xuerong Yan, Yuxi Wang, Feng Li, Hao Kou, Hui Wang, Yu Guo   +9 more
wiley   +1 more source

Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience. [PDF]

Int J Neonatal Screen
Groulx-Boivin E, Belzile A, Nguyen CÉ, Gauthier A, Chrestian N, Michaud-Gosselin C, Giguère Y, Berthier MT, Soucy JF, Laberge AM, Oskoui M.   +10 more
europepmc   +1 more source

Newborn Screening for Congenital Hypothyroidism in India– Is OVERDUE

, 2014
Enzo Ranieri Janice Fletcher
openalex   +1 more source

Parental Attitudes toward Ethical and Social Issues Surrounding the Expansion of Newborn Screening Using New Technologies [PDF]

, 2010
Lianne Hasegawa, Kathleen Fergus, Norma Ojeda, Sylvia Mann Au   +3 more
openalex   +1 more source

Microglial Rack1 Deficiency Alleviates Alzheimer's Disease Pathology through Enhancing IGF1‐Mediated Astrocytic Phagocytosis

Advanced Science, EarlyView.
Alzheimer's disease (AD) is the most common neurodegenerative disorder. This study demonstrates that microglial Rack1 deficiency decreased Aβ deposition and neuroinflammation and ameliorated cognitive impairments in AD model mice by enhancing IGF1‐mediated astrocytic phagocytosis.
Jingdan Zhang, Yanling He, Pin Yang, Hengchang Zhang, Yueyang Tong, Lingling Jiang, Zehan Li, Meichen Yan, Xiaoheng Li, Qinghu Yang, Jing Yang, Zengqiang Yuan, Jiyan Zhang, Jinbo Cheng   +13 more
wiley   +1 more source

The status of newborn screening in Africa: Situation analysis, future plans and call to action. [PDF]

Afr J Lab Med
Satekge T, Okesina A, Anetor J, Erasmus R.   +3 more
europepmc   +1 more source